Canonical Allele Identifier: PA2827310931
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 935501
ClinVar RCV Id: RCV001204108 RCV001828637
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Val283Leu
CA292012776
NM_001330397.2:c.847G>C
CA400326353
NM_001330397.2:c.847G>T